DisGeNET - a database of gene-disease associations

List of associated variants

Pheochromocytoma, C0031511

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121908813	CIAO1 ; TMEM127	1.000	0.040	2	96265399	5 prime UTR variant	G/A	snv			1
rs121908814	TMEM127 ; CIAO1	0.925	0.040	2	96265379	start lost	C/A;T	snv			2
rs121908815	CIAO1 ; TMEM127	1.000	0.040	2	96265306	stop gained	G/A	snv			1
rs121908816	TMEM127 ; CIAO1	0.925	0.080	2	96265262	frameshift variant	ACAG/-	delins		2.1E-05	3
rs121908817	CIAO1 ; TMEM127	0.925	0.040	2	96265232	frameshift variant	-/T	delins			2
rs121908818	CIAO1 ; TMEM127	0.925	0.080	2	96265224	stop gained	C/G;T	snv		7.0E-06	1
rs121908821	TMEM127	0.882	0.080	2	96254998	splice acceptor variant	C/A;G	snv	8.0E-06		3
rs121908822	TMEM127	0.925	0.080	2	96254974	frameshift variant	TCTG/-	delins			2
rs121908825	TMEM127	1.000	0.040	2	96254832	splice donor variant	C/A	snv			1
rs121908826	TMEM127	0.882	0.080	2	96254117	splice acceptor variant	T/C;G	snv			3
rs121908827	TMEM127	1.000	0.040	2	96254107	missense variant	A/G	snv			1
rs121908828	TMEM127	1.000	0.040	2	96254106	missense variant	C/A;T	snv	4.0E-06		1
rs121908829	TMEM127	1.000	0.040	2	96254078	stop gained	C/T	snv			1
rs121908830	TMEM127	0.925	0.040	2	96254050	stop gained	G/A	snv			3
rs121908831	TMEM127	1.000	0.040	2	96253884	frameshift variant	-/TCTGAGAGCAGCTC	delins	4.0E-06		1
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	12
rs387906649	MAX	0.925	0.040	14	65102339	start lost	T/C	snv			3
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06		17
rs75234356	RET	0.716	0.240	10	43120144	missense variant	T/G	snv	1.2E-05	7.0E-06	7
rs79658334	RET	0.662	0.360	10	43119548	missense variant	G/A;C;T	snv	1.2E-04; 4.3E-06		14
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		10
rs78014899	RET	0.742	0.160	10	43118392	missense variant	G/A;C;T	snv	8.0E-06		8
rs146646971	RET	0.807	0.120	10	43114598	missense variant	G/C;T	snv	2.4E-05		3
rs377767412	RET	0.790	0.240	10	43114547	synonymous variant	G/A	snv			7
rs77709286	RET	0.752	0.160	10	43114502	missense variant	C/G	snv	4.0E-06		8